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RCC1L RCC1 like [ Homo sapiens (human) ]

Gene ID: 81554, updated on 24-Nov-2020

Summary

Official Symbol
RCC1Lprovided by HGNC
Official Full Name
RCC1 likeprovided by HGNC
Primary source
HGNC:HGNC:14948
See related
Ensembl:ENSG00000274523
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
WBSCR16
Summary
This gene encodes a protein containing regulator of chromosome condensation 1-like repeats. The encoded protein may function as a guanine nucleotide exchange factor. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Expression
Ubiquitous expression in kidney (RPKM 12.5), fat (RPKM 10.7) and 25 other tissues See more
Orthologs

Genomic context

See RCC1L in Genome Data Viewer
Location:
7q11.23
Exon count:
13
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (75027119..75073802, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (74441223..74489717, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375352 Neighboring gene uncharacterized LOC107986811 Neighboring gene cytosolic arginine sensor for mTORC1 subunit 2 Neighboring gene Williams-Beuren syndrome telomeric block B recombination region Neighboring gene GTF2I repeat domain containing 2B Neighboring gene neutrophil cytosolic factor 1C pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC44931, MGC189739, DKFZp434D0421

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
RNA binding HDA PubMed 
guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
rRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
mitochondrial membrane fusion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of mitochondrial translation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
RCC1-like G exchanging factor-like protein
Names
Williams-Beuren syndrome chromosomal region 16 protein
Williams-Beuren syndrome chromosome region 16

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001281441.2NP_001268370.1  RCC1-like G exchanging factor-like protein isoform 3

    See identical proteins and their annotated locations for NP_001268370.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks multiple 3' coding exons and contains an alternate 3' exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC040695
    Consensus CDS
    CCDS64684.1
    UniProtKB/Swiss-Prot
    Q96I51
    Related
    ENSP00000480781.1, ENST00000618035.4
    Conserved Domains (2) summary
    pfam00415
    Location:301351
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:232261
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
  2. NM_001363447.2NP_001350376.1  RCC1-like G exchanging factor-like protein isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC245150, BC007823, HY175052
    Conserved Domains (1) summary
    cl27697
    Location:29329
    RCC1; Regulator of chromosome condensation (RCC1) repeat
  3. NM_030798.5NP_110425.2  RCC1-like G exchanging factor-like protein isoform 1

    See identical proteins and their annotated locations for NP_110425.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL536085, BC007823
    Consensus CDS
    CCDS5577.1
    UniProtKB/Swiss-Prot
    Q96I51
    Related
    ENSP00000480364.1, ENST00000610322.5
    Conserved Domains (2) summary
    pfam00415
    Location:412455
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:232261
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
  4. NM_148842.3NP_683682.1  RCC1-like G exchanging factor-like protein isoform 2

    See identical proteins and their annotated locations for NP_683682.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks the 3' coding exon and contains an alternate 3' exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL536085, BC032712
    Consensus CDS
    CCDS64683.1
    UniProtKB/Swiss-Prot
    Q96I51
    Related
    ENSP00000477659.1, ENST00000614461.4
    Conserved Domains (2) summary
    pfam00415
    Location:301351
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:232261
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    75027119..75073802 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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